Preserved Outer Retina in AIPL1 Leber's Congenital Amaurosis: Implications for Gene Therapy
نویسندگان
چکیده
منابع مشابه
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large cohort of such patients (n = 392) and probed the likelihood of disease-causation of the identified v...
متن کاملEvaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
PURPOSE To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4 (LCA4) due to AIPL1 mutations. METHODS Genomic DNA from patients was analyzed using a microarray chip and direct sequencing. A detailed clinical evaluation including fundus autofluorescence (FAF) and optical coherence tomography (OCT) was performed in patients with AIPL...
متن کاملVision 1 year after gene therapy for Leber's congenital amaurosis.
To the Editor: The discussion of donor assessment by Kotton et al. suggests that exclusion criteria from the Centers for Disease Control and Prevention (CDC) (Table 3 of the article) are used to reduce the likelihood of transmission of the human immunodeficiency virus (HIV). In fact, the CDC’s criteria do not have an exclusionary function but define a group of donors considered to have a high r...
متن کاملDifferential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
PURPOSE To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software wa...
متن کاملAn unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
AIMS To report a case of an unusual retinal vascular morphology in connection with a novel AIPL1 mutation in a patient with Leber's congenital amaurosis (LCA). METHODS A patient with LCA and no light perception from birth had both eyes enucleated at the age of 22 years because of excruciating pain. Mutation analysis was performed on known LCA genes. The eyes were processed for casts of the va...
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ژورنال
عنوان ژورنال: Ophthalmology
سال: 2015
ISSN: 0161-6420
DOI: 10.1016/j.ophtha.2014.11.019